Abstract Details

KCNT1-related epilepsy is a rare genetic disorder characterized by frequent, treatment-resistant seizures and profound developmental delay. Retrospective and registry data show three main phenotypes: Epilepsy of Infancy with Migrating Focal Seizures (EIMFS), Early-Onset Epileptic Encephalopathy (EOEE), and Sleep-related Hypermotor Epilepsy (SHE). There are limited prospective, longitudinal data to inform clinical trial design. Gathering such data in clinic represents a major effort for patients and caregivers.  Remote study visits represent an alternative strategy for studying this disorder.

To follow KCNT1-related epilepsy patients in a natural history study with a fully remote design.

Clinically and genetically confirmed KCNT1-related epilepsy patients will be followed for 12 months in a single-center fully-remote study. Remote elements include electronic informed consent, telemedicine study visits and assessments, neuropsychological and developmental assessments, an electronic seizure and sleep diary, electronic patient- and caregiver-reported outcome measures, and home health visits for sample collection and video EEG.

Primary endpoint: frequency and type of seizures as recorded in an electronic seizure diary. Secondary endpoints: head circumference; Clinical Global Impression; Visual Analog Scale (VAS) for symptoms; Vineland Adaptive Behavior Scales (Vineland-3); Brief Infant Sleep Questionnaire-Revised (BISQ-R), Children’s Sleep Habits Questionnaire (CSHQ), or Pittsburgh Sleep Quality Index (PSQI); Pediatric Quality of Life (PedsQL) and Family Impact Module; Child Behavior Checklist (CBCL) or Adult Self-Report (ASR); Screen for Child Anxiety Related Emotional Disorders (SCARED)-Parent About Child Version and Screen for Adult Anxiety Related Disorders (SCAARED) Adult Version; Questionnaire for Psychotic Experiences (QPE). Exploratory endpoints: at home overnight EEG and biomarker samples.

This study will provide new prospective, longitudinal information about the natural history of the most common phenotypes of KCNT1-related epilepsy. This study design focuses on capturing patient and caregiver burden of disease, while minimizing the burden of participation in a population where traveling to and attending in-person study visits represents a challenge.